PALB2 c.2509G>T ;(p.E837*)

Variant ID: 16-23640966-C-A

NM_024675.3(PALB2):c.2509G>T;(p.E837*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PALB2: 2509G>T; Glu837Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular evolutionary process of advanced gastric cancer during sequential chemotherapy detected by circulating tumor DNA.

Journal Of Translational Medicine
Xi, Wenqi W; Zhou, Chenfei C; Xu, Fei F; Sun, Debin D; Wang, Shengzhou S; Chen, Yawei Y; Ji, Jun J; Ma, Tao T; Wu, Junwei J; Shangguan, Chengfang C; Zhu, Zhenggang Z; Zhang, Jun J
Publication Date: 2022-08-12

Variant appearance in text: PALB2: 2509G>T; E837*
PubMed Link: 35962408
Variant Present in the following documents:
  • 12967_2022_3567_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PALB2: 2509G>T; E837X
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PALB2: E837*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PALB2: 2509G>T; Glu837Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zhen, David B DB; Rabe, Kari G KG; Gallinger, Steven S; Syngal, Sapna S; Schwartz, Ann G AG; Goggins, Michael G MG; Hruban, Ralph H RH; Cote, Michele L ML; McWilliams, Robert R RR; Roberts, Nicholas J NJ; Cannon-Albright, Lisa A LA; Li, Donghui D; Moyes, Kelsey K; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Seminara, Daniela D; Klein, Alison P AP; Petersen, Gloria M GM
Publication Date: 2015-07

Variant appearance in text: PALB2: E837X
PubMed Link: 25356972
Variant Present in the following documents:
  • Main text
  • nihms632415.pdf
View BVdb publication page